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277 entries on 3 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

Reference     

Remarks     

Disease     

Genes screened

Variants     

Panel size     

Owner     
00000001 Hart et al. 2004 African American origin AI hypomat. KLK4 1 1 Claire Smith
00000002 Wang et al. 2013 Turkish origin AI hypomat. KLK4 1 1 Claire Smith
00000003 Seymen et al. 2015 - AI hypomat. KLK4 1 1 Claire Smith
00000004 Poulter et al. 2014 Costa Rican origin AI hypoplastic AMBN 1 1 Claire Smith
00000005 Katsura et al. 2014 - AI hypomat. WDR72 1 1 Claire Smith
00000006 Ozdemir et al. 2005 Turkish origin AI hypomat. MMP20 1 1 Claire Smith
00000007 Wang et al. 2013 - AI hypoplastic MMP20 1 1 Claire Smith
00000008 Lee et al. 2010 - AI hypomat. MMP20 1 1 Claire Smith
00000009 Gasse et al. 2013 - AI hypomat. MMP20 1 1 Claire Smith
00000010 Papagerakis et al. 2008 Chinese origin AI hypopla.mat. MMP20 1 1 Claire Smith
00000011 Kim et al. 2005 - AI hypomat. MMP20 1 1 Claire Smith
00000012 Kuechler et al. 2012 Turkish origin AI hypomat. WDR72 1 1 Claire Smith
00000013 Lee et al. 2010 Mexican origin AI hypomat. WDR72 1 1 Claire Smith
00000014 Lee et al. 2010 Turkish origin AI hypomat. WDR72 1 1 Claire Smith
00000015 Wright et al. 2011 - AI hypomat. WDR72 1 1 Claire Smith
00000016 El-Sayed et al. 2009 Pakistani origin AI hypomat. WDR72 1 1 Claire Smith
00000017 El-Sayed et al. 2009 Pakistani origin AI hypomat. WDR72 1 1 Claire Smith
00000018 El Sayed et al. 2009 Omani origin AI hypomat. WDR72 1 1 Claire Smith
00000019 El-Sayed et al. 2009 Omani origin AI hypomat. WDR72 1 1 Claire Smith
00000020 El-Sayed et al. 2011 Pakistani origin AI hypomat. WDR72 1 1 Claire Smith
00000021 Wright et al. 2011 African American origin AI hypomat. KLK4 1 1 Claire Smith
00000022 Wang et al. 2014 Turkish origin AI hypomat. SLC24A4 1 1 Claire Smith
00000023 Parry et al. 2013 Pakistani origin AI hypomin. SLC24A4 1 1 Claire Smith
00000024 Herzog et al. 2014 Turkish origin AI hypomat. SLC24A4 1 1 Claire Smith
00000025 Parry et al. 2013 Pakistani origin AI hypomin. SLC24A4 1 1 Claire Smith
00000026 Seymen et al. 2014 - AI hypomat. SLC24A4 1 1 Claire Smith
00000027 Parry et al. 2012 USA origin AI hypomat. C4orf26 2 1 Claire Smith
00000028 Parry et al. 2012 USA origin AI hypomat. C4orf26 2 1 Claire Smith
00000029 Parry et al. 2012 Syrian origin AI hypomat. C4orf26 1 1 Claire Smith
00000030 Parry et al. 2012 Iraqi origin AI hypomat. C4orf26 1 1 Claire Smith
00000031 Gasse et al. 2013 - AI hypomat. MMP20 2 1 Claire Smith
00000032 Wright et al. 2009 - AI hypocalc. FAM83H 1 1 Claire Smith
00000033 Lee et al. 2008 Asian origin; sporadic mutation AI hypocalc. FAM83H 1 1 Claire Smith
00000034 Haubek et al. 2011 Danish origin Phenotype previously reported by Gjørup et al. 2009 http://dx.doi.org/10.1080/00016350902973685 AI hypocalc. FAM83H 1 1 Claire Smith
00000035 Song et al. 2012 Chinese origin AI hypocalc. FAM83H 1 1 Claire Smith
00000036 Simmer et al. 2013 Caucasian AI hypoplastic ENAM 1 1 Claire Smith
00000037 Mårdh et al. 2002 Swedish origin; 7 families AI hypoplastic ENAM 1 7 Claire Smith
00000038 Kim et al. 2006 - AI hypoplastic ENAM 1 1 Claire Smith
00000039 Kim et al. 2005 Turkish origin AI hypoplastic ENAM 1 1 Claire Smith
00000040 Seymen et al. 2014 Turkish origin AI hypoplastic ENAM 1 1 Claire Smith
00000041 Seymen et al. 2014 Turkish origin AI hypoplastic ENAM 1 1 Claire Smith
00000042 Rajpar et al. 2001 - AI hypoplastic ENAM 1 1 Claire Smith
00000043 Song et al. 2012 Chinese origin AI hypoplastic ENAM 1 1 Claire Smith
00000044 Wright et al. 2011 Notation varies, reference to variant in {PMID:Wright et al. 2011:21597265} made in {PMID:Chan et al. 2011: 22243262} and {PMID:Simmer et al. 2013:22540999} AI hypoplastic ENAM 1 1 Claire Smith
00000045 Gutierrez et al. 2007 Columbian origin AI hypoplastic ENAM 1 1 Claire Smith
00000046 Kida et al. 2002 Japanese origin AI hypoplastic ENAM 1 1 Claire Smith
00000047 Hart et al. 2003 Lebanese origin; 6 males and 4 females affected. AI hypoplastic ENAM 1 1 Claire Smith
00000048 Kim et al. 2005 Iranian origin AI hypoplastic ENAM 1 1 Claire Smith
00000049 Pavlic et al. 2007 - AI hypoplastic ENAM 1 1 Claire Smith
00000050 Wright et al. 2011 - AI hypoplastic ENAM 1 1 Claire Smith
00000051 Chan et al. 2010 Czech origin AI hypoplastic ENAM 2 1 Claire Smith
00000052 Ozdemir et al. 2005 Turkish origin AI hypoplastic ENAM 1 1 Claire Smith
00000053 Ozdemir et al 2005 Turkish origin AI hypoplastic ENAM 2 1 Claire Smith
00000054 Hart et al. 2003 3 families AI hypoplastic ENAM 1 3 Claire Smith
00000055 Pavlic et al. 2007 - AI hypoplastic ENAM 1 1 Claire Smith
00000056 Kang et al. 2009 - AI hypoplastic ENAM 1 1 Claire Smith
00000057 Lindemeyer et al. 2010 - AI hypoplastic ENAM 1 1 Claire Smith
00000058 Kang et al. 2009 - AI hypoplastic ENAM 1 1 Claire Smith
00000059 Wang et al. 2015 Chinese origin AI hypoplastic ENAM 1 1 Claire Smith
00000060 Wang et al. 2015 Chinese origin AI hypoplastic ENAM 1 1 Claire Smith
00000061 Wang et al. 2014 Hispanic origin AI hypoplastic ITGB6 2 1 Claire Smith
00000062 Seymen et al. 2015 Turkish origin AI hypoplastic ITGB6 1 1 Claire Smith
00000063 Poulter et al. 2014 UK Pakistani origin AI hypomin. ITGB6 1 1 Claire Smith
00000064 Wang et al. 2014 Hispanic origin. Also carries hemizygous NHS mutation (c.1697T>C, p.Met566Thr) AI hypoplastic ITGB6 1 1 Claire Smith
00000065 Seymen et al. 2015 - AI hypomat. MMP20 1 1 Claire Smith
00000066 Kim et al. 2004 - AI hypoplastic AMELX 1 1 Claire Smith
00000067 Kim et al. 2004 - AI hypoplastic AMELX 1 1 Claire Smith
00000068 Lagerström-Fermer et al. 1995 - AI hypoplastic AMELX 1 1 Claire Smith
00000069 Chan et al. 2011 Primary source unavailable on Pubmed: Sekiguchi H, Kiyoshi M, Yakushiji M. DNA diagnosis of X-linked amelogenesis imperfecta using PCR detection method of the human amelogenin gene. Dent Japan. 2001;37:109–112. AI hypoplastic AMELX 1 1 Claire Smith
00000070 Cho et al. 2014 Synonymous variant leads to inclusion of exon 4 in transcript AI hypoplastic AMELX 1 1 Claire Smith
00000071 Lench & Winter 1995 - AI hypopla.mat. AMELX 1 1 Claire Smith
00000072 Aldred et al 1992 - AI hypoplastic AMELX 1 1 Claire Smith
00000073 Lench et al. 1994 - AI hypoplastic AMELX 1 1 Claire Smith
00000074 Kida et al. 2007 Japanese origin AI hypoplastic AMELX 1 1 Claire Smith
00000075 Collier et al. 1997 - AI hypomat. AMELX 1 1 Claire Smith
00000076 Hart et al. 2000 USA origin (North Carolina); 2 families AI hypomat. AMELX 1 2 Claire Smith
00000077 Wright et al. 2011 Study included individuals of Caucasian, African American, Hispanic and Asian descent; 2 families AI hypomat. AMELX 1 2 Claire Smith
00000078 Chan et al. 2011 - AI hypomin.mat AMELX 1 1 Claire Smith
00000079 Chan et al. 2011 Original reference not on PubMed: Sekiguchi H, Alaluusua S, Minaguchi K, Yakushiji M. A new mutation in the amelogenin gene causes X-linked amelogenesis imperfecta. J Dent Res. 2001;80:617. AI hypoplastic AMELX 1 1 Claire Smith
00000080 Hart et al. 2002 - AI hypomin. AMELX 1 1 Claire Smith
00000081 Greene et al. 2002 - AI hypoplastic AMELX 1 1 Claire Smith
00000082 Lench & Winter 1995 - AI hypoplastic AMELX 1 1 Claire Smith
00000083 Wright et al. 2011 Study includes individuals from Caucasian, African American, Hispanic and Asian descent; 2 families AI hypoplastic AMELX 1 2 Claire Smith
00000084 Lee et al. 2011 South Korean origin AI hypoplastic AMELX 1 1 Claire Smith
00000085 Kindelan et al. 2000 - AI hypoplastic AMELX 1 1 Claire Smith
00000086 Hart et al. 2002 - AI hypoplastic AMELX 1 1 Claire Smith
00000087 Lench & Winter 1995 - AI hypoplastic AMELX 1 1 Claire Smith
00000088 Prasad et al. 2016 - AI hypoplastic AMELX 1 1 Claire Smith
00000089 Prasad et al. 2016 - AI hypoplastic AMBN 1 1 Claire Smith
00000090 Prasad et al. 2016 - AI hypoplastic ENAM 1 1 Claire Smith
00000091 Wright et al. 2009 Caucasian origin AI hypocalc. FAM83H 1 1 Claire Smith
00000092 Song et al. 2012 Chinese origin AI hypocalc. FAM83H 1 1 Claire Smith
00000093 Kim et al. 2008 South Korean origin AI hypocalc. FAM83H 1 1 Claire Smith
00000094 Song et al. 2012 Chinese origin AI hypocalc. FAM83H 1 1 Claire Smith
00000095 Zhang et al. 2015 Chinese origin AI hypocalc. FAM83H 1 1 Claire Smith
00000096 Kim et al. 2008 South Korean origin AI hypocalc. FAM83H 1 1 Claire Smith
00000097 Ding et al. 2009 Caucasian origin AI hypocalc. FAM83H 1 1 Claire Smith
00000098 Hart et al. 2009 Turkish origin AI hypocalc. FAM83H 1 1 Claire Smith
00000099 Wright et al. 2011 2 families AI hypocalc. FAM83H 1 2 Claire Smith
00000100 Lee et al. 2008 Hispanic origin AI hypocalc. FAM83H 1 1 Claire Smith
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